R29* (p.Arg29Ter) variant of NOTCH2 (Q04721)
R29* (p.Arg29Ter) in NOTCH2 (Q04721) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R29* (p.Arg29Ter) variant details
- p.Arg29Ter
- rs1174406807
- ClinGen CA341849570
- ClinVar RCV000986404
- ClinVar RCV001312091
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.847
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:SURUI population (allele frequency 0.071)
- Structural context available
- Cited in: Alagille Syndrome. (PMID 20301450)